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Eye (London, England) Aug 2023Once considered a rare and often difficult diagnosis in the era predating routine MRI, idiopathic intracranial hypertension has become an everyday concern in... (Review)
Review
Once considered a rare and often difficult diagnosis in the era predating routine MRI, idiopathic intracranial hypertension has become an everyday concern in ophthalmology and neurology clinics where, especially in the latter, essentially every young overweight woman with headaches is initially presumed to have IIH. Has the diagnosis of IIH become too easy, and are we over-diagnosing IIH in this period of an accelerating obesity crisis? Or are we actually missing cases of IIH because they do not fit the classic clinical profile? We think it is both: at the same time IIH is being diagnosed in excess in obese women without papilledema, often resulting in unnecessary procedures, inappropriate treatment and even iatrogenic complications, the spectrum of this disorder is expanding to include a broad array of clinical presentations that involve multiple specialists beyond just the ophthalmologist and neurologist.
Topics: Humans; Female; Pseudotumor Cerebri; Papilledema; Obesity; Magnetic Resonance Imaging
PubMed: 36509997
DOI: 10.1038/s41433-022-02361-3 -
The Cochrane Database of Systematic... Nov 2023Keratoconus remains difficult to diagnose, especially in the early stages. It is a progressive disorder of the cornea that starts at a young age. Diagnosis is based on... (Review)
Review
BACKGROUND
Keratoconus remains difficult to diagnose, especially in the early stages. It is a progressive disorder of the cornea that starts at a young age. Diagnosis is based on clinical examination and corneal imaging; though in the early stages, when there are no clinical signs, diagnosis depends on the interpretation of corneal imaging (e.g. topography and tomography) by trained cornea specialists. Using artificial intelligence (AI) to analyse the corneal images and detect cases of keratoconus could help prevent visual acuity loss and even corneal transplantation. However, a missed diagnosis in people seeking refractive surgery could lead to weakening of the cornea and keratoconus-like ectasia. There is a need for a reliable overview of the accuracy of AI for detecting keratoconus and the applicability of this automated method to the clinical setting.
OBJECTIVES
To assess the diagnostic accuracy of artificial intelligence (AI) algorithms for detecting keratoconus in people presenting with refractive errors, especially those whose vision can no longer be fully corrected with glasses, those seeking corneal refractive surgery, and those suspected of having keratoconus. AI could help ophthalmologists, optometrists, and other eye care professionals to make decisions on referral to cornea specialists. Secondary objectives To assess the following potential causes of heterogeneity in diagnostic performance across studies. • Different AI algorithms (e.g. neural networks, decision trees, support vector machines) • Index test methodology (preprocessing techniques, core AI method, and postprocessing techniques) • Sources of input to train algorithms (topography and tomography images from Placido disc system, Scheimpflug system, slit-scanning system, or optical coherence tomography (OCT); number of training and testing cases/images; label/endpoint variable used for training) • Study setting • Study design • Ethnicity, or geographic area as its proxy • Different index test positivity criteria provided by the topography or tomography device • Reference standard, topography or tomography, one or two cornea specialists • Definition of keratoconus • Mean age of participants • Recruitment of participants • Severity of keratoconus (clinically manifest or subclinical) SEARCH METHODS: We searched CENTRAL (which contains the Cochrane Eyes and Vision Trials Register), Ovid MEDLINE, Ovid Embase, OpenGrey, the ISRCTN registry, ClinicalTrials.gov, and the World Health Organization International Clinical Trials Registry Platform (WHO ICTRP). There were no date or language restrictions in the electronic searches for trials. We last searched the electronic databases on 29 November 2022.
SELECTION CRITERIA
We included cross-sectional and diagnostic case-control studies that investigated AI for the diagnosis of keratoconus using topography, tomography, or both. We included studies that diagnosed manifest keratoconus, subclinical keratoconus, or both. The reference standard was the interpretation of topography or tomography images by at least two cornea specialists.
DATA COLLECTION AND ANALYSIS
Two review authors independently extracted the study data and assessed the quality of studies using the Quality Assessment of Diagnostic Accuracy Studies (QUADAS-2) tool. When an article contained multiple AI algorithms, we selected the algorithm with the highest Youden's index. We assessed the certainty of evidence using the GRADE approach.
MAIN RESULTS
We included 63 studies, published between 1994 and 2022, that developed and investigated the accuracy of AI for the diagnosis of keratoconus. There were three different units of analysis in the studies: eyes, participants, and images. Forty-four studies analysed 23,771 eyes, four studies analysed 3843 participants, and 15 studies analysed 38,832 images. Fifty-four articles evaluated the detection of manifest keratoconus, defined as a cornea that showed any clinical sign of keratoconus. The accuracy of AI seems almost perfect, with a summary sensitivity of 98.6% (95% confidence interval (CI) 97.6% to 99.1%) and a summary specificity of 98.3% (95% CI 97.4% to 98.9%). However, accuracy varied across studies and the certainty of the evidence was low. Twenty-eight articles evaluated the detection of subclinical keratoconus, although the definition of subclinical varied. We grouped subclinical keratoconus, forme fruste, and very asymmetrical eyes together. The tests showed good accuracy, with a summary sensitivity of 90.0% (95% CI 84.5% to 93.8%) and a summary specificity of 95.5% (95% CI 91.9% to 97.5%). However, the certainty of the evidence was very low for sensitivity and low for specificity. In both groups, we graded most studies at high risk of bias, with high applicability concerns, in the domain of patient selection, since most were case-control studies. Moreover, we graded the certainty of evidence as low to very low due to selection bias, inconsistency, and imprecision. We could not explain the heterogeneity between the studies. The sensitivity analyses based on study design, AI algorithm, imaging technique (topography versus tomography), and data source (parameters versus images) showed no differences in the results.
AUTHORS' CONCLUSIONS
AI appears to be a promising triage tool in ophthalmologic practice for diagnosing keratoconus. Test accuracy was very high for manifest keratoconus and slightly lower for subclinical keratoconus, indicating a higher chance of missing a diagnosis in people without clinical signs. This could lead to progression of keratoconus or an erroneous indication for refractive surgery, which would worsen the disease. We are unable to draw clear and reliable conclusions due to the high risk of bias, the unexplained heterogeneity of the results, and high applicability concerns, all of which reduced our confidence in the evidence. Greater standardization in future research would increase the quality of studies and improve comparability between studies.
Topics: Humans; Artificial Intelligence; Keratoconus; Cross-Sectional Studies; Physical Examination; Case-Control Studies
PubMed: 37965960
DOI: 10.1002/14651858.CD014911.pub2 -
Medical Principles and Practice :... 2024Helicobacter pylori infection is a significant global health concern. It cannot be diagnosed based solely on the patient's medical history and symptoms, and laboratory... (Review)
Review
Helicobacter pylori infection is a significant global health concern. It cannot be diagnosed based solely on the patient's medical history and symptoms, and laboratory and imaging tests are often required to confirm the diagnosis. Both noninvasive and invasive methods are available for diagnosing H. pylori infection, including conventional and advanced detection techniques. It is not uncommon for patients to present with false-negative results due to the use of inadequate investigation methodologies, which prevents the adoption of appropriate clinical management. Thus, an analysis of the literature regarding the methods of diagnosis of H. pylori, with its advantages and disadvantages, is necessary. Publications in specialized scientific journals will undoubtedly contribute to facilitating access by professionals interested in the topic providing greater knowledge and potentially clinically useful guidance. In this review, the authors have sought to analyze and summarize the invasive and noninvasive methods, their applications, limitations, and the conditions that affect the sensitivity of the tests used for diagnosing H. pylori, an essential step for the successful treatment of this infection. It is essential to treat all patients infected with H. pylori. This represents a significant change in the approach, as the treatment was recommended previously only for patients showing symptoms of infection. Therefore, it is crucial to understand the limitations of traditional diagnostic methods and help raise awareness among healthcare professionals about the latest advances in diagnosing this important bacterium.
Topics: Humans; Helicobacter Infections; Helicobacter pylori; Sensitivity and Specificity; Breath Tests
PubMed: 38484713
DOI: 10.1159/000538349 -
Ugeskrift For Laeger Apr 2024Bronchoscopy has a low risk of complications when diagnosing peripheral lung lesions suspected of malignancy, however the procedures do not always determine a diagnosis.... (Review)
Review
Bronchoscopy has a low risk of complications when diagnosing peripheral lung lesions suspected of malignancy, however the procedures do not always determine a diagnosis. Several modalities have been invented to improve the diagnostic yield, including radial endobronchial ultrasound and electromagnetic navigation, which are currently used by several departments in Denmark. Augmented fluoroscopy, CT-guided bronchoscopy and robotic bronchoscopy are not yet available in Denmark, but may improve the diagnostic work-up, as argued in this review.
Topics: Humans; Lung Neoplasms; Bronchoscopy; Fluoroscopy; Endosonography; Lung
PubMed: 38606703
DOI: 10.61409/V09230596 -
Radiologie (Heidelberg, Germany) Mar 2024Inflammatory orbital processes on imaging are often misinterpreted as tumors. (Review)
Review
CLINICAL/METHODICAL ISSUE
Inflammatory orbital processes on imaging are often misinterpreted as tumors.
STANDARD RADIOLOGICAL METHODS
Imaging comprises computed tomography (CT) and magnetic resonance imaging (MRI).
ACHIEVEMENTS
Clinical and laboratory data play a crucial role in diagnosing many inflammatory orbital diseases. Radiological imaging provides a supporting but relevant role.
PRACTICAL RECOMMENDATIONS
Clinical examination, including specialized ophthalmological examinations, laboratory diagnostics, and MRI are important in the diagnosis of inflammatory orbital diseases.
Topics: Humans; Tomography, X-Ray Computed; Magnetic Resonance Imaging; Orbital Diseases; Diagnosis, Differential
PubMed: 38363324
DOI: 10.1007/s00117-024-01271-7 -
Journal of the American Academy of... Aug 2023Hair loss is a common complaint among both men and women and is associated with significant psychologic distress. Due to the varied causes, it is important to correctly... (Review)
Review
Hair loss is a common complaint among both men and women and is associated with significant psychologic distress. Due to the varied causes, it is important to correctly diagnose the type of alopecia a patient is experiencing to ensure tailoring of treatment. This continuing medical education article describes the approach to diagnose alopecia based on current clinical practice and standards.
Topics: Male; Humans; Female; Alopecia; Patients; Education, Medical, Continuing
PubMed: 37591563
DOI: 10.1016/j.jaad.2023.05.040 -
Journal of Medical Ultrasonics (2001) Jul 2023The standard diagnostic modalities for gastrointestinal (GI) diseases have long been endoscopy and barium enema. Recently, trans-sectional imaging modalities, such as... (Review)
Review
The standard diagnostic modalities for gastrointestinal (GI) diseases have long been endoscopy and barium enema. Recently, trans-sectional imaging modalities, such as computed tomography and magnetic resonance imaging, have become increasingly utilized in daily practice. In transabdominal ultrasonography (US), the bowel sometimes interferes with the observation of abdominal organs. Additionally, the thin intestinal walls and internal gas can make structures difficult to identify. However, under optimal US equipment settings, with identification of the sonoanatomy and knowledge of the US findings of GI diseases, US can be used effectively to diagnose GI disorders. Thus, the efficacy of GIUS has been gradually recognized, and GIUS guidelines have been published by the World Federation for Ultrasound in Medicine and Biology and the European Federation of Societies for Ultrasound in Medicine and Biology. Following a systematic scanning method according to the sonoanatomy and precisely estimating the layered wall structures by employing color Doppler make diagnosing disease and evaluating the degree of inflammation possible. This review describes current GIUS practices from an equipment perspective, a procedure for systematic scanning, typical findings of the normal GI tract, and 10 diagnostic items in an attempt to help medical practitioners effectively perform GIUS and promote the use of GIUS globally.
Topics: Humans; Ultrasonography; Gastrointestinal Diseases; Tomography, X-Ray Computed; Magnetic Resonance Imaging
PubMed: 36087155
DOI: 10.1007/s10396-022-01236-0 -
The Journal of Maternal-fetal &... Dec 2023Respiratory distress syndrome (RDS) is a common critical lung disease in newborn infants, especially those in premature infants with higher mortality rate. Early and...
Respiratory distress syndrome (RDS) is a common critical lung disease in newborn infants, especially those in premature infants with higher mortality rate. Early and correct diagnosis is the key to improve its prognosis. Previously, the diagnosis of RDS mainly relied on chest X-ray (CXR) findings, and it has been graded into four stages based on the progression and severity of CXR changes. This traditional diagnosing and grading method may lead to high misdiagnosis rate or delayed diagnosis. Recently, using ultrasound to diagnose neonatal lung diseases and RDS is becoming increasingly popular, and the technology is gaining higher sensitivity and higher specificity. The management of RDS under lung ultrasound (LUS) monitoring has achieved significant results, reducing the misdiagnosis rate of RDS, thereby reducing the probability of mechanical ventilation and the use of exogenous pulmonary surfactant, and making the success rate of treatment of RDS up to 100%. The purpose of the article was to introduce the ultrasound grading methods and criteria of RDS, in order to promote the application of LUS in the diagnosis and treatment of RDS. Literature (in English and Chinese) on the use of ultrasound in the diagnosis of neonatal RDS between 2008 and 2022 was selected for inclusion in this study. From the collected literature, the use of ultrasound in the diagnosis of RDS is increasing, and people's understanding of the ultrasound imaging findings of RDS is also changing. Among them, the research on ultrasound grading of RDS is the latest progress. Ultrasound is accurate and reliable in the diagnosis and differential diagnosis of RDS. It is of great clinical value to master the ultrasound diagnosis and grading criteria of RDS.
Topics: Infant, Newborn; Humans; Respiratory Distress Syndrome, Newborn; Lung; Infant, Premature; Pulmonary Surfactants; Lung Diseases; Ultrasonography
PubMed: 37142428
DOI: 10.1080/14767058.2023.2206943 -
Current Diabetes Reports Aug 2023This review aims to elucidate the limitations of diagnosing metabolic syndrome in adolescents as well as challenges and opportunities in the identification and reduction... (Review)
Review
PURPOSE OF REVIEW
This review aims to elucidate the limitations of diagnosing metabolic syndrome in adolescents as well as challenges and opportunities in the identification and reduction of cardiometabolic risk in this population.
RECENT FINDINGS
There are multiple criticisms of how we define and approach obesity in clinical practice and scientific research, and weight stigma further complicates the process of making and communicating weight-related diagnoses. While the goal of diagnosing and managing metabolic syndrome in adolescents would be to identify individuals at elevated future cardiometabolic risk and intervene to reduce the modifiable component of this risk, there is evidence that identifying cardiometabolic risk factor clustering may be more useful in adolescents than establishing a cutoff-based diagnosis of metabolic syndrome. It has also become clear that many heritable factors and social and structural determinants of health contribute more to weight and body mass index than do individual behavioral choices about nutrition and physical activity. Promoting cardiometabolic health equity requires that we intervene on the obesogenic environment and mitigate the compounding effects of weight stigma and systemic racism. The existing options to diagnose and manage future cardiometabolic risk in children and adolescents are flawed and limited. While striving to improve population health through policy and societal interventions, there are opportunities to intervene at all levels of the socioecological model in order to decrease future morbidity and mortality from the chronic cardiometabolic diseases associated with central adiposity in both children and adults. More research is needed to identify the most effective interventions.
Topics: Child; Adult; Humans; Adolescent; Metabolic Syndrome; Risk Factors; Obesity; Body Mass Index; Cardiovascular Diseases
PubMed: 37273161
DOI: 10.1007/s11892-023-01513-3 -
The Journal of Allergy and Clinical... Oct 2023Cutaneous manifestations are common in patients with inborn errors of immunity (IEI)/primary immunodeficiency and could be due to infections, immune dysregulation, or... (Review)
Review
Cutaneous manifestations are common in patients with inborn errors of immunity (IEI)/primary immunodeficiency and could be due to infections, immune dysregulation, or lymphoproliferative/malign diseases. Immunologists accept some as warning signs for underlying IEI. Herein, we include noninfectious/infectious cutaneous manifestations that we come across in rare IEI cases in our clinic and provide a comprehensive literature review. For several skin diseases, the diagnosis is challenging and differential diagnosis is necessary. Detailed disease history and examination play a vital role in reaching a diagnosis, especially if there is a potential underlying IEI. A skin biopsy is sometimes necessary, especially if we need to rule out inflammatory, infectious, lymphoproliferative, and malignant conditions. Specific and immunohistochemical stainings are particularly important when diagnosing granuloma, amyloidosis, malignancies, and infections like human herpes virus-6, human herpes virus-8, human papillomavirus, and orf. Elucidation of mechanisms of IEIs has improved our understanding of their relation to cutaneous findings. In challenging cases, the immunological evaluation may lead the approach when there is a specific primary immunodeficiency diagnosis or at least help to reduce the number of differential diagnoses. Conversely, the response to therapy may provide conclusive evidence for some conditions. This review raises awareness of concomitant lesions and expands the scope of the differential diagnosis of IEI and the spectrum of skin disease therapy by highlighting frequent forms of IEI-associated cutaneous manifestations. The manifestations given here will guide clinicians to plan for alternative use of diverse therapeutics in a multidisciplinary way for skin diseases.
Topics: Humans; Diagnosis, Differential; Ambulatory Care Facilities; Biopsy; Herpesvirus 6, Human; Skin Diseases
PubMed: 37391021
DOI: 10.1016/j.jaip.2023.06.037